TP53, tumor protein p53, 7157

N. diseases: 84; N. variants: 390
Disease: Li-Fraumeni Syndrome ×
Source: CLINVAR ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587778720
rs587778720
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment. 26270727 2015
dbSNP: rs587778720
rs587778720
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327 2014
dbSNP: rs587778720
rs587778720
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR The impact of R213 mutation on p53-mediated p21 activity. 24384472 2014
dbSNP: rs587778720
rs587778720
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR Number of rare germline CNVs and TP53 mutation types. 23259501 2012
dbSNP: rs587778720
rs587778720
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334 2011
dbSNP: rs587778720
rs587778720
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes. 20522432 2010
dbSNP: rs587778720
rs587778720
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset. 19468865 2009
dbSNP: rs587778720
rs587778720
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR Within a series of BRCA1 and BRCA2 mutation-negative families, a germline TP53 13398 G>A (Arg213Gln) mutation was identified, which was selected for mutation analysis in this gene because of a family history consistent with Li-Fraumeni syndrome (LFS). 17541742 2008
dbSNP: rs587778720
rs587778720
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR Choroid plexus carcinoma: a new case associated with a novel TP53 germ line mutation. 18208484 2008
dbSNP: rs587778720
rs587778720
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR Transcriptional functionality of germ line p53 mutants influences cancer phenotype. 17606709 2007
dbSNP: rs587778720
rs587778720
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. 16494995 2007
dbSNP: rs587778720
rs587778720
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR Late-onset common cancers in a kindred with an Arg213Gln TP53 germline mutation. 16736287 2006
dbSNP: rs587778720
rs587778720
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis. 12826609 2003
dbSNP: rs587778720
rs587778720
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR Clinical significance of p53 mutations in newly diagnosed Burkitt's lymphoma and acute lymphoblastic leukemia: a report of 48 cases. 7707106 1995
dbSNP: rs587778720
rs587778720
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0085390
Disease:
Li-Fraumeni Syndrome 		T 0.810 CausalMutation CLINVAR Gain-of-function mutations of the p53 gene induce lymphohematopoietic metastatic potential and tissue invasiveness. 8080050 1994